Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000111639 | SCV000299614 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2016-09-08 | reviewed by expert panel | curation | Variant allele predicted to encode a truncated non-functional protein. |
Ambry Genetics | RCV000166974 | SCV000217795 | pathogenic | Hereditary cancer-predisposing syndrome | 2014-12-04 | criteria provided, single submitter | clinical testing | The c.1518delG pathogenic mutation (also known as 1637delG), located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at position 1518, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001175075 | SCV001338633 | pathogenic | Hereditary breast ovarian cancer syndrome | 2020-04-07 | criteria provided, single submitter | clinical testing | Variant summary: BRCA1 c.1518delG (p.Arg507AspfsX25) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 250932 control chromosomes (gnomAD). c.1518delG has been reported in the literature in individuals affected with Hereditary Breast and Ovarian Cancer (Bhaskaran_2019, Momozawa_2018). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. An expert panel (ENIGMA) (evaluation after 2014) cites the variant as pathogenic in ClinVar. Based on the evidence outlined above, the variant was classified as pathogenic. |
Breast Cancer Information Core |
RCV000111639 | SCV000144122 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion criteria provided | clinical testing |